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KMID : 1197720170100030149
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대한파킨슨병 및 이상운동질환 학회지
2017 Volume.10 No. 3 p.149 ~ p.153
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Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
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Park Kye-Won
Ryu Ho-Sung
Kim Ju-Yeon
Chung Sun-Ju
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Abstract
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Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.
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KEYWORD
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Oculodentodigital dysplasia, gap junction alpha 1, Connexin-43
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Listed journal information
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